Elena Domínguez-Garrido
6PUBLICATIONS
5CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (6)
Sort by Publication Date:
|Mar 10, 2022
Phenotypic comparison of patients affected with DeSanto-Shinawi syndrome: Point mutations in WAC gene versus a 10p12.1 microdeletion including WAC.Cristina Toledo-Gotor, Cristina García-Muro, Alberto García-Oguiza
|Dec 28, 2020
A 22.5 kb deletion in CUL4B causing Cabezas syndrome identified using CNV approach from WES data.Maria López, Virginia Pérez-Grijalba, Inmaculada García-Cobaleda
|Jan 19, 2020
Education and information needs for physicians about rare diseases in Spain.Enrique Ramalle-Gómara, Elena Domínguez-Garrido, María Gómez-Eguílaz
|Oct 01, 2019
New insights into genetic variant spectrum and genotype-phenotype correlations of Rubinstein-Taybi syndrome in 39 CREBBP-positive patients.Virginia Pérez-Grijalba, Alberto García-Oguiza, María López
|Mar 30, 2019
Regarding the rights and duties of Clinical Laboratory Geneticists in genetic healthcare systems; results of a survey in over 50 countries.Thomas Liehr, Isabel M Carreira, Zsofia Balogh
|Apr 16, 2016
A novel SLC6A8 mutation associated with motor dysfunction in a child exhibiting creatine transporter deficiency.Cristina Cervera-Acedo, Maria Lopez, Jana Aguirre-Lamban
Pageof 1
